title: [Congenital thrombocytopenia in adults].
abstract: Thrombocytopenia in adult patients is usually acquired. Important causes are medication, pregnancy, infections and auto-immune disorders. Here we present 2 patients, a 32-year-old and a 45-year-old man, in whom congenital thrombocytopenia was discovered in adulthood, caused by a mutation in the gene for Wiskott-Aldrich syndrome. This congenital thrombocytopenia appears in different forms. Indications for the disorder are chronic thrombocytopenia, a family history and additional clinical signs such as eczema and renal insufficiency. Measurement of the thrombocyte size is a helpful tool in the diagnosis. Recognition of congenital thrombocytopenia can have important clinical consequences.
authors.affiliation: Onze Lieve Vrouwe Gasthuis, afd. Interne Geneeskunde, Amsterdam, the Netherlands. a.a.vanzweeden@amc.nl
authors.forename: Annette
authors.initials: A
authors.lastname: van Zweeden
authors.forename: Pieter
authors.initials: P
authors.lastname: Bot
authors.forename: Yves
authors.initials: Y
authors.lastname: Smets
authors.forename: Wim
authors.initials: W
authors.lastname: Terpstra
mesh_terms: D000328:Adult; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011379:Prognosis; D013921:Thrombocytopenia / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D014923:Wiskott-Aldrich Syndrome / Q000175:diagnosis* / Q000235:genetics*; D051316:Wiskott-Aldrich Syndrome Protein / Q000235:genetics*
chemical_list: D051316:Wiskott-Aldrich Syndrome Protein